Article
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain : a journal of neurology - 1 May 2017
Wolff Markus, Johannesen Katrine M, Hedrich Ulrike B S, Masnada Silvia, Rubboli Guido, Gardella Elena, Lesca Gaetan, Ville Dorothée, Milh Mathieu, Villard Laurent, Afenjar Alexandra, Chantot-Bastaraud Sandra, Mignot Cyril, Lardennois Caroline, Nava Caroline, Schwarz Niklas, Gérard Marion, Perrin Laurence, Doummar Diane, Auvin Stéphane, Miranda Maria J, Hempel Maja, Brilstra Eva, Knoers Nine, Verbeek Nienke, van Kempen Marjan, Braun Kees P, Mancini Grazia, Biskup Saskia, Hörtnagel Konstanze, Döcker Miriam, Bast Thomas, Loddenkemper Tobias, Wong-Kisiel Lily, Baumeister Friedrich M, Fazeli Walid, Striano Pasquale, Dilena Robertino, Fontana Elena, Zara Federico, Kurlemann Gerhard, Klepper Joerg, Thoene Jess G, Arndt Daniel H, Deconinck Nicolas, Schmitt-Mechelke Thomas, Maier Oliver, Muhle Hiltrud, Wical Beverly, Finetti Claudio, Brückner Reinhard, Pietz Joachim, Golla Günther, Jillella Dinesh, Linnet Karen M, Charles Perrine, Moog Ute, Õiglane-Shlik Eve, Mantovani John F, Park Kristen, Deprez Marie, Lederer Damien, Mary Sandrine, Scalais Emmanuel, Selim Laila, Van Coster Rudy, Lagae Lieven, Nikanorova Marina, Hjalgrim Helle, Korenke G Christoph, Trivisano Marina, Specchio Nicola, Ceulemans Berten, Dorn Thomas, Helbig Katherine L, Hardies Katia, Stamberger Hannah, de Jonghe Peter, Weckhuysen Sarah, Lemke Johannes R, Krägeloh-Mann Ingeborg, Helbig Ingo, Kluger Gerhard, Lerche Holger, Møller Rikke S
Abstract excerpt
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3...
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